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A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

BACKGROUND: Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (a...

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書誌詳細
主要な著者: Manes, Gaël, Hebrard, Maxime, Bocquet, Béatrice, Meunier, Isabelle, Coustes-Chazalette, Delphine, Sénéchal, Audrey, Bolland-Augé, Anne, Zelenika, Diana, Hamel, Christian P
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2011
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3102607/
https://ncbi.nlm.nih.gov/pubmed/21496248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-54
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